Canonical Allele Identifier: CA8064029

Gene: GNAO1

Linked Data

• dbSNP Id: rs771141469
• ExAC: 16:56388829 G / A
• MyVariant Identifiers: chr16:g.56388829G>A (hg19) ; chr16:g.56354917G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354917G>A , CM000678.2:g.56354917G>A	GRCh38
NC_000016.9:g.56388829G>A , CM000678.1:g.56388829G>A	GRCh37
NC_000016.8:g.54946330G>A	NCBI36
NG_042800.1:g.168579G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.929G>A MANE Select	ENSP00000262493.6:p.Ser310Asn
ENST00000562316.6:c.545-1186G>A	ENSP00000457238.2:n.545-1186G>A
ENST00000564727.2:c.233G>A	ENSP00000454971.2:p.Ser78Asn
ENST00000568375.2:c.167G>A
ENST00000638185.1:n.1144G>A
ENST00000638210.1:n.1229G>A
ENST00000638705.1:c.929G>A	ENSP00000491223.1:p.Ser310Asn
ENST00000638836.1:n.839G>A
ENST00000639055.1:n.1650G>A
ENST00000639251.1:n.830G>A
ENST00000639268.1:c.564G>A
ENST00000639341.1:c.454G>A
ENST00000639770.1:c.967G>A	ENSP00000491999.1:n.967G>A
ENST00000640390.1:n.859G>A
ENST00000640469.1:c.293G>A	ENSP00000491875.1:p.Ser98Asn
ENST00000640560.1:n.705G>A
ENST00000640893.1:c.*327G>A	ENSP00000492677.1:n.*327G>A
ENST00000262493.10:c.929G>A	ENSP00000262493.6:p.Ser310Asn
ENST00000564727.1:c.149G>A	ENSP00000454971.1:p.Ser50Asn
ENST00000568375.1:n.167G>A
NM_020988.2:c.929G>A	NP_066268.1:p.Ser310Asn
XM_011523003.1:c.803G>A	XP_011521305.1:p.Ser268Asn
XM_011523003.3:c.803G>A	XP_011521305.1:p.Ser268Asn
NM_020988.3:c.929G>A MANE Select	NP_066268.1:p.Ser310Asn